Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
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- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
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- Genesis (GEM.App)
- LeighMap
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Bone Diseases (D001847)
Parent Node: Cysts (D003560)
..Starting node ..Bone Cysts (D001845)
Child Nodes:
........Bone Cysts, Aneurysmal (D017824)
........Jaw Cysts (D007570) 8
........Polycystic bone disease (C536324)
Sister Nodes:
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Arachnoid Cysts (D016080) 6
..Bone Cysts (D001845) 11
..Branchioma (D001935)
..Breast Cyst (D047688) 1
..Bronchogenic Cyst (D001994)
..Chalazion (D017043)
..Choledochal Cyst (D015529) 2
..Colloid Cysts (D056364) 1
..Cystic medial necrosis of aorta (C536230)
..Dermoid Cyst (D003884) 5
..Ectodermal dysplasia adrenal cyst (C538015)
..Epidermal Cyst (D004814) 2
..Esophageal Cyst (D004934)
..Follicular Cyst (D005497) 2
..Ganglion Cysts (D045888)
..Leukoencephalopathy, Cystic, Without Megalencephaly (C567845)
..Lymphocele (D008210) 1
..Mediastinal Cyst (D008476)
..Megalencephalic leukoencephalopathy with subcortical cysts (C536141)
..Mesenteric Cyst (D008639)
..Microphthalmia associated with colobomatous cyst (C537463)
..Mucocele (D009078)
..Ovarian Cysts (D010048) 5
..Pancreatic Cyst (D010181) 2
..Parovarian Cyst (D010310)
..Pilonidal Sinus (D010864)
..Polycystic liver disease (C536330)
..Ranula (D011900)
..Sener syndrome (C537579)
..Spermatocele (D013088)
..Synovial Cyst (D013581) 1
..Tarlov Cysts (D052958)
..Thyroglossal Cyst (D013955) 1
..Urachal Cyst (D014496) 1
..Van der Woude syndrome (C536528) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1356
Name:	Bone Cysts
Definition:	Benign unilocular lytic areas in the proximal end of a long bone with well defined and narrow endosteal margins. The cysts contain fluid and the cyst walls may contain some giant cells. Bone cysts usually occur in males between the ages 3-15 years.
Alternative IDs:
ParentIDs:	MESH:D001847\|MESH:D003560
TreeNumbers:	C04.182.089 \|C05.116.070
Synonyms:	Bone Cyst \|Cyst, Bone \|Cysts, Bone \|Cyst, Solitary \|Cysts, Solitary \|Cysts, Subchondral \|Cyst, Subchondral \|Ganglia, Intraosseous \|Ganglia, Intra Osseous \|Ganglia, Intra-Osseous \|Ganglias, Intraosseous \|Ganglias, Intra-Osseous \|Ganglion, Intraosseous \|Ganglion, Intra
Slim Mappings:	Cancer\|Musculoskeletal disease
Reference:	MedGen: D001845 MeSH: D001845 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants